Intellectual disability
Gene: TRNT1

TRNT1 (tRNA nucleotidyl transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 13 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - sufficient number of cases with (mild-profound) developmental delay, associated with biallelic variants in TRNT1.
Created: 24 Aug 2020, 12:49 p.m. | Last Modified: 24 Aug 2020, 12:49 p.m.

Panel Version: 3.264

Created: 24 Aug 2020, 12:49 p.m.
Last Modified: 24 Aug 2020, 12:49 p.m.
Panel version: 3.264

Zornitza Stark (Australian Genomics)

Green List (high evidence)

> 10 families reported with congenital sideroblastic anemia, B-cell deficiency, periodic fevers, and variable degrees of delayed psychomotor development.
Sources: Expert list
Created: 1 Mar 2020, 9:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Mar 2020, 9:42 a.m.

Panel version: 3.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084

OMIM

612907

Clinvar variants

Variants in TRNT1

Penetrance

None

Publications

Panels with this gene